ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.3702C>T (p.Val1234=) (rs144957555)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188063 SCV000241667 benign not specified 2014-11-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000712261 SCV000557163 likely benign not provided 2019-01-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000188063 SCV000595705 likely benign not specified 2015-11-17 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712261 SCV000842707 likely benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716539 SCV000847380 likely benign History of neurodevelopmental disorder 2016-07-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)

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